Variant (rsID / SNP)
rs28934897
rs28934897 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MVK. Location: chromosome 12, position 110,034,320. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:110034320
- Cytoband
- 12q24.11
- HGVS
- NM_000431.4(MVK):c.1129G>A (p.Val377Ile)
- Allele change
- Missense_V377I
Associated conditions / phenotypes
Hyperimmunoglobulin D with periodic fever|Hyperimmunoglobulin D with periodic fever|Mevalonic aciduria|Porokeratosis 3, disseminated superficial actinic type|Hyperimmunoglobulin D with periodic fever|Mevalonic aciduria|MVK-Related Disorders|Porokeratosis 3, disseminated superficial actinic type|See cases|Autoinflammatory syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.